Academic journal article Bulletin of the World Health Organization

Coming Together to Combat Rare Diseases: The European Commission Is Increasingly Supporting Collaborative Initiatives Focused on Research into Treatments and Drugs for Rare Diseases, but Lack of Funding Continues to Be an Issue

Academic journal article Bulletin of the World Health Organization

Coming Together to Combat Rare Diseases: The European Commission Is Increasingly Supporting Collaborative Initiatives Focused on Research into Treatments and Drugs for Rare Diseases, but Lack of Funding Continues to Be an Issue

Article excerpt

"It was like being hit by a tsunami." French mother of three, Beatrice de Montleau, vividly recalls the day she learned that her four-year-old son had Duchenne muscular dystrophy, a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting. The disease primarily affects males and onset occurs early. People with the disease usually die in young adulthood, succumbing to cardiomyopathy, the effect of the disease on the heart muscle, and respiratory failure. Treatment with steroids offers some relief, but there is no cure. "For a time I was just in shock," says de Montleau. "It was devastating."

With an estimated incidence of 1 in 3300, Duchenne muscular dystrophy is considered a rare disease, one of several thousand classified as such. Estimates vary as to exactly how many rare diseases there are, partly because countries define rare diseases differently. "In European Union (EU) countries, any disease affecting fewer than 5 people in 10 000 is considered rare," explains Antoni Montserrat Moliner, policy officer at the Directorate of Public Health at the European Commission in Luxembourg. Most patients suffer from diseases affecting 1 in 10000 or less. According to the European Medicines Agency, there are between 5000 and 8000 distinct rare diseases in the EU, affecting between 27 and 36 million people.

Rare diseases range from cystic fibrosis and haemophilia to Angelman Syndrome, with an incidence of about 1 in 15 000, to Opitz trigonocephaly syndrome, which is extremely rare with about one case per million people.

While the parents of children with rare diseases may initially be isolated by grief, they soon realize that talking to people going through similar experiences is invaluable. "They have to reach out," says Paloma Tejada, communications director at the European Organization for Rare Diseases (EURORDIS), a nongovernmental, patient-driven alliance of patient organizations and individuals active in the field of rare diseases. For her part, Beatrice de Montleau reached out to the French Muscular Dystrophy Assocation, Association Francaise Contre les Myopathies.

Reaching out goes beyond looking for people who understand what you are going through. It is also a way of finding out about new treatments or research that looks promising. This drive to connect is one of the reasons that patients' associations such as EURORDIS naturally cross borders and forge links, strategies that have until quite recently been largely unexploited in Europe. "In the area of health, the EU has had very little power when compared to agriculture or the environment," explains Montserrat, noting that because of this, EU Member States have tended to focus on national health concerns. National identity is something that people living with rare diseases don't tend to think about, according to Edmund Jessop, a rare disease specialist and the United Kingdom of Great Britain and Northern Ireland (UK) representative on the new EU Committee of Experts on Rare Diseases. "Suffering from a rare disease affects your sense of identity," he says. "You start to think of yourself not as being French or English or Danish, but as a person with this particular disease. I think that is one of the reasons why the rare disease patient groups tend to be much more international and collaborative in their focus."

While a domestic focus is not particularly problematic for many health issues, for rare diseases it is disastrous. This is because not one of the 27 EU Member States, however big, can hope to offer treatment for the full spectrum of rare diseases. "Even in the UK [with a population of 62 million] some patients have to be sent overseas for treatment," says Jessop.

Meanwhile, individual countries struggle to find the resources to conduct research, including the patients needed to conduct clinical trials. "There are just three cases of progeria in France" says Tejada. "You cannot organize clinical trials on that basis. …

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